Authors:
Yazar S, Mishra A, Ang W, Kearns LS, Mountain JA, Pennell C, et al.
Authors notes:
Molecular Vision. 2013;19:1238-1246
Keywords:
Corneal astigmatism, genome-wide association study, Raine study, cornea
Abstract:
Corneal astigmatism is a common eye disorder characterized by irregularities in corneal curvature.
Recently, the rs7677751 single nucleotide polymorphism (SNP) at the platelet-derived growth factor receptor alpha (PDGFRA) locus was found to be associated with corneal astigmatism in people of Asian ancestry.
In the present study, we sought to replicate this finding and identify other genetic markers of corneal astigmatism in an Australian population of Northern European ancestry.
Following meta-analysis, SNP rs7677751 at the PDGFRA locus had a combined p=0.32.
No variant was found to be statistically significantly associated with corneal astigmatism at the genome-wide level.
The SNP with strongest association was rs1164064 on chromosome 3q13.
Gene-based pathway analysis identified a significant association between the Gene Ontology "segmentation" (GO:0035282) pathway, corrected p=0.009.
Our data suggest that the PDGFRA locus does not transfer a major risk of corneal astigmatism in people of Northern European ancestry.
Better-powered studies are required to validate the novel putative findings of our study.